A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364208



Internal ID22190504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57093601..57094750hg38UCSC Ensembl
chr12:57487384..57488533hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216045
Supporting Variants
SamplesHG00731
Known GenesNAB2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364208
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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